Ochsner journal · 2026
Recurrent Seizure-Like Events in a Toddler With BMPR2-Related Pulmonary Arterial Hypertension.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Cagatay Nur Sena, Ahluwalia Neha, Luat Aimee
Аннотация
BACKGROUND: Seizure-like episodes are common in children, but many spells are not true epileptic seizures. Cardiac or pulmonary conditions such as pulmonary arterial hypertension can be the cause of the seizure-like episodes, particularly when the events persist despite administration of antiseizure medications.
CASE REPORT: A 2-year-old male presented with recurrent seizure-like episodes that persisted despite administration of 2 antiseizure medications. Spells consisted of a sudden collapse followed by body jerking. Electroencephalogram and brain imaging were normal. Given the atypical features and lack of medication response, a cardiology evaluation was pursued. Echocardiography revealed severe pulmonary arterial hypertension with markedly elevated right heart pressures. Genetic testing confirmed the presence of a pathogenic bone morphogenetic protein receptor type 2 (BMPR2) gene. Despite initiation of sildenafil, bosentan, and prostacyclin therapy, the patient's condition worsened with recurrent syncopal and cyanotic episodes. He suffered a cardiac arrest requiring prolonged resuscitation and extracorporeal membrane oxygenation support, complicated by hypoxic-ischemic encephalopathy and multiorgan failure. Following discussions with the family, care was redirected to comfort measures, and the patient died.
CONCLUSION: This case illustrates how pulmonary arterial hypertension may mimic drug-resistant epilepsy. Rather than seizures, the patient's events were syncope resulting from decreased cerebral perfusion caused by low cardiac output. BMPR2 mutations are the most common genetic cause of heritable pulmonary arterial hypertension and are associated with earlier onset, more severe disease, and poor response to therapy compared to pulmonary arterial hypertension without BMPR2 mutations. To our knowledge, this case is the first report of BMPR2-related pulmonary arterial hypertension initially presenting as seizure-like episodes in a child. Children with atypical presentations should be evaluated for cardiopulmonary causes. Early recognition of pulmonary arterial hypertension is essential, as delayed diagnosis limits treatment opportunities.
CASE REPORT: A 2-year-old male presented with recurrent seizure-like episodes that persisted despite administration of 2 antiseizure medications. Spells consisted of a sudden collapse followed by body jerking. Electroencephalogram and brain imaging were normal. Given the atypical features and lack of medication response, a cardiology evaluation was pursued. Echocardiography revealed severe pulmonary arterial hypertension with markedly elevated right heart pressures. Genetic testing confirmed the presence of a pathogenic bone morphogenetic protein receptor type 2 (BMPR2) gene. Despite initiation of sildenafil, bosentan, and prostacyclin therapy, the patient's condition worsened with recurrent syncopal and cyanotic episodes. He suffered a cardiac arrest requiring prolonged resuscitation and extracorporeal membrane oxygenation support, complicated by hypoxic-ischemic encephalopathy and multiorgan failure. Following discussions with the family, care was redirected to comfort measures, and the patient died.
CONCLUSION: This case illustrates how pulmonary arterial hypertension may mimic drug-resistant epilepsy. Rather than seizures, the patient's events were syncope resulting from decreased cerebral perfusion caused by low cardiac output. BMPR2 mutations are the most common genetic cause of heritable pulmonary arterial hypertension and are associated with earlier onset, more severe disease, and poor response to therapy compared to pulmonary arterial hypertension without BMPR2 mutations. To our knowledge, this case is the first report of BMPR2-related pulmonary arterial hypertension initially presenting as seizure-like episodes in a child. Children with atypical presentations should be evaluated for cardiopulmonary causes. Early recognition of pulmonary arterial hypertension is essential, as delayed diagnosis limits treatment opportunities.